A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243164



Internal ID22375493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44967583..45000717hg38UCSC Ensembl
Outerchr21:46387498..46420632hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381215
hg191215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268764, nssv14268763, nssv14268762
SamplesNA19239, HG00732, NA19240
Known GenesFAM207A, LINC00162, LINC00163
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243164
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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